RGD:405263188 Rat Genome Database

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Variant: RGD:405263188 -  Homo sapiens

RGD ID: 405263188
ClinVar ID: CV3189425
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 59,409,582
GRCh38 8 58,497,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000771.2:p.Thr163=
NM_000780.4:c.489C>T
NG_007969.1:g.8140C>T
NC_000008.11:g.58497023G>A
More... 		01/17/2024 synonymous variant likely benign CYP7A1-related condition

Variant Details
Variant Transcripts
Gene Symbol:CYP7A1
Accession:NM_000780
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFIT
NPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSN
SKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAE
SLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLE
NAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEI
YPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLD
QSRAGLGILPPLNDIEFKYKFKHL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003896659 CLINVAR
NCBI Gene CYP7A1 CLINVAR
OMIM 118455 CLINVAR